A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (
COL4A1
) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of
C...
Alternative Titles
Full title
A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
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TN_cdi_doaj_primary_oai_doaj_org_article_708573073f184596934086a2ed050635
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_708573073f184596934086a2ed050635
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-022-00199-5
